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It has been shown that the CAG repeat expansion enhances alternative splicing at the intron46/exon47 splice junction, resulting in much higher level of these polyQ-encoding isoforms in Purkinje cells of SCA6 cerebella [ 52].
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The risk allele of the most strongly associated variant, rs2413396, decreased the score gap between the common splice site and the alternate by 25%; possibly this decrease could enhance alternative splicing.
The observation that HBP/SLBPΔE2, HBP/SLBPΔE3 and HBP/SLBPΔE2+ΔE3 splice variants accumulate in HU-treated cells indicated that replication stress conditions may enhance alternative splicing of HBP/SLBP.
This hypothesis is further supported by the observation that extrinsic signals leading to activation of the AKT protein kinase enhance the alternative splicing and translation of reporter RNAs containing a consensus SF2/ASF binding site [29].
The enormous variety of formins within a single plant organism far exceeds that found in fungi and metazoans, where only a handful of formin genes exist, although their diversity can be enhanced by alternative splicing [ 13] and heterodimerization [ 14].
Alternative splicing enhances proteomic diversity to support complexity in higher eukaryotes [4].
Since the SR proteins SC35 and SRp40 are known to enhance p19 H-Ras alternative splicing [8], we also analyzed whether the RNAi-mediated depletion of hnRNP A1, FUS/TLS, hnRNP H and p68 affect SR proteins mRNA levels.
This highly repressive character may enhance the effectiveness of alternative splicing.
Although there were no encoding amino acid changes in these mutations and polymorphisms, numerous functional roles for introns have been elucidated; these functions include augmenting proteome diversity by enabling alternative splicing, enhancing gene expression, and harboring various cis- and trans-regulatory elements [ 32– 32].
PARK2 primary transcript undergoes an extensive alternative splicing, which enhances transcriptomic diversification.
In addition, H3K4me3 enhances splicing efficiency and affects alternative splicing, possibly through its association with the U2 snRNP (Sims et al. 2007; Luco et al. 2010).
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